A novel type of sequence variation: multiple-nucleotide length polymorphisms discovered in the bovine genome

Genetics. 2007 May;176(1):403-7. doi: 10.1534/genetics.106.069401. Epub 2007 Apr 3.

Abstract

Three types of sequence variations--single-nucleotide polymorphisms (SNPs), insertions and deletions (indels), and short tandem repeats (STRs)--have been extensively reported in mammalian genomes. In this study, we discovered a novel type of sequence variation, i.e., multiple-nucleotide length polymorphisms (MNLPs) in bovine UCN3 (Urocortin 3) and its receptor CRHR2 (corticotropin-releasing hormone receptor 2) genes. Both MNLPs featured involvement of multiple-nucleotide length polymorphisms (5-18 bases), low sequence identity, and 1.7- to 11-fold changes in promoter activity between two alleles. Therefore, this novel genetic complexity would contribute significantly to the evolutionary, functional, and phenotypic complexity of genomes within or among species.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Binding Sites
  • Cattle / genetics*
  • Corticotropin-Releasing Hormone / genetics
  • Genetics, Population
  • Genome / genetics*
  • Haplotypes
  • Molecular Sequence Data
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics
  • Receptors, Corticotropin-Releasing Hormone / genetics

Substances

  • CRF receptor type 2
  • Receptors, Corticotropin-Releasing Hormone
  • Corticotropin-Releasing Hormone